SCN1A c.1849A>T ;(p.R617*)

Variant ID: 2-166900373-T-A

NM_001165963.1(SCN1A):c.1849A>T;(p.R617*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open
Ouss, Lisa L; Leunen, Dorothee D; Laschet, Jacques J; Chemaly, Nicole N; Barcia, Giulia G; Losito, Emma M EM; Aouidad, Aveline A; Barrault, Zoe Z; Desguerre, Isabelle I; Breuillard, Delphine D; Nabbout, Rima R
Publication Date: 2019-03

Variant appearance in text: SCN1A: 1849A>T; Arg617X
PubMed Link: 30868114
Variant Present in the following documents:
  • Main text
  • EPI4-4-40.pdf
View BVdb publication page